{
  "id": 16777,
  "label": "qualitative or quantitative defects of protein ZASP",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016190",
  "properties": {
    "xrefs": [
      "GARD:0020429",
      "MEDGEN:1842575",
      "Orphanet:209050",
      "UMLS:C5680840"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16773,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020425",
          "MEDGEN:1842566",
          "Orphanet:209038",
          "UMLS:C5680851"
        ],
        "synonyms": [
          "qualitative or quantitative defects of myofibrillar proteins"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016186"
    }
  ],
  "children": [
    {
      "id": 13336,
      "label": "myofibrillar myopathy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16734,
        16777,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080095",
          "GARD:0001886",
          "MEDGEN:1648314",
          "MESH:C563718",
          "OMIM:609452",
          "Orphanet:98912",
          "UMLS:C4721886"
        ],
        "synonyms": [
          "LDB3 myofibrillar myopathy (disease)",
          "ZASP-related myofibrillar myopathy",
          "myofibrillar myopathy (disease) caused by mutation in LDB3",
          "myofibrillar myopathy type 4",
          "myopathy, myofibrillar, type 4",
          "MFM4",
          "late-onset distal myopathy, Markesbery-Griggs type",
          "myopathy, myofibrillar, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012277"
    }
  ],
  "roots": [
    {
      "id": 16773,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins"
    }
  ]
}